Canonical Allele Identifier: CA919905431

Gene: GAA

Linked Data

• dbSNP Id: rs1567830544
• gnomAD v4: 17-80108606-TGGTGAGTTGGGGTGGTGGCAGG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80108609_80108630del , CM000679.2:g.80108609_80108630del	GRCh38
NC_000017.10:g.78082408_78082429del , CM000679.1:g.78082408_78082429del	GRCh37
NC_000017.9:g.75697003_75697024del	NCBI36
NG_009822.1:g.12054_12075del , LRG_673:g.12054_12075del

Transcript Alleles

HGVS	Amino-acid change
ENST00000570803.6:c.1194+2_1194+23del
ENST00000572080.2:c.1194+2_1194+23del
ENST00000577106.6:c.1194+2_1194+23del
ENST00000302262.8:c.1194+2_1194+23del
ENST00000302262.7:c.1194+2_1194+23del
ENST00000390015.7:c.1194+2_1194+23del
NM_000152.3:c.1194+2_1194+23del , LRG_673t1:c.1194+2_1194+23del
NM_001079803.1:c.1194+2_1194+23del
NM_001079804.1:c.1194+2_1194+23del
XM_005257193.1:c.1194+2_1194+23del
XM_005257194.3:c.1194+2_1194+23del
NM_000152.4:c.1194+2_1194+23del
NM_001079803.2:c.1194+2_1194+23del
NM_001079804.2:c.1194+2_1194+23del
XM_005257193.2:c.1194+2_1194+23del
XM_005257194.4:c.1194+2_1194+23del
NM_000152.5:c.1194+2_1194+23del
NM_001079803.3:c.1194+2_1194+23del
NM_001079804.3:c.1194+2_1194+23del